• Corpus ID: 16132151

Neuropathy , ataxia and retinitis pigmentosa ( NARP ) syndrome

@inproceedings{Santorelli2004NeuropathyA,
  title={Neuropathy , ataxia and retinitis pigmentosa ( NARP ) syndrome},
  author={M C Santorelli and Alessandra Tessa and Enrico Silvio Bertini},
  year={2004}
}
Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropathy, cerebellar ataxia, and night blindness. Its prevalence is approximately estimated at 1:12 000. NARP… 

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1 Medical Student, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo (SP), Brazil. 2 Medical Student, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo (SP),

References

SHOWING 1-10 OF 12 REFERENCES

Cone and rod dysfunction in the NARP syndrome

This study demonstrates the great variability of the ocular manifestations in the NARP syndrome and indicates that the retinal dystrophy in at least some NARP patients affects primarily the cones.

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

The severity of symptoms to the mutant load and predicted the clinical outcome of a given mutant load were related to the available data to generate empirical recurrence risks for genetic counseling, which may be used in conjunction with prenatal diagnosis.

A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

Article abstract A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T→C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T→G

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

The oxidative stress resulting from the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the mitochondrial ATPase 6 gene was investigated in cultured skin fibroblasts and established that the superoxide production associated with the ATPase deficiency triggered by the NARP mutation could be sufficient to override cell antioxidant defenses and to result in cell commitment to die.

The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.

It is shown that antioxidants restore respiration and partially rescue ATP synthesis in cells harboring the T8993G mutation and that free radicals might play an important role in the pathogenesis of NARP/MILS and that this can be prevented by antioxidants.

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

Allotopic expression of stably transfected constructs in cytoplasmic hybrids (cybrids) homoplasmic with respect to the 8993T→G mutation showed a significantly improved recovery after growth in selective medium as well as a significant increase in ATP synthesis.

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

A T‐to‐C transition at nucleotide (nt) 9176 in the mitochondrial adenosine triphosphatase 6 (ATPase 6) gene was detected in 2 brothers with a neurological disorder resembling Leigh syndrome, and the mutation was homoplasmic in muscle, leucocytes, and fibroblasts.